A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228213



Internal ID22370474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121442570..121450639hg38UCSC Ensembl
Outerchr12:121880373..121888442hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg388070
hg198070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255592
SamplesHG00732
Known GenesKDM2B, MIR7107
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228213
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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